Now Is the Time to Use Molecular Gene Testing for the Diagnosis of Primary Immune Deficiencies

The discovery of chromosomes, genes, and DNA in the early 20th century paved the way for the development of techniques to examine the role of these elements in disease pathogenesis. Since the start of the 21st century, genetic testing and particularly next-generation sequencing has allowed for a rapid rate of gene disease associations for a broad range of primary immunodeficiency patients. At the same time, biologic and small molecule-based therapies targeting specific molecular pathways have been developed and are being applied clinically and in research settings to treat genetically defined immunodeficiencies. In recent years, both the American Academy of Allergy Asthma and Immunology and the Clinical Immunology Society have recommended the use of genetic testing for diagnosis, therapy guidance, and genetic counseling in patients with clinical symptoms of primary immunodeficiency.